Variant report

Variant	rs1330320
Chromosome Location	chr9:21255150-21255151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10113879	0.82[ASN][1000 genomes]
rs10114358	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10120675	0.82[ASN][1000 genomes]
rs10125010	0.82[ASW][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10738591	0.82[ASN][1000 genomes]
rs10757208	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10757210	0.82[ASN][1000 genomes]
rs10811505	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs10811519	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10811522	0.82[ASN][1000 genomes]
rs10811523	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs10964878	0.87[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap]
rs10964920	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10964929	0.97[ASN][1000 genomes]
rs10964953	0.82[ASN][1000 genomes]
rs10964954	0.81[ASN][1000 genomes]
rs10964955	0.82[ASN][1000 genomes]
rs10964956	0.82[ASN][1000 genomes]
rs10964958	0.81[ASN][1000 genomes]
rs12552812	0.92[ASN][1000 genomes]
rs1330314	0.82[CHD][hapmap]
rs1330318	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1330319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330322	0.81[CEU][hapmap]
rs1330323	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1330324	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1330325	0.90[EUR][1000 genomes]
rs1411437	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1475547	0.81[ASN][1000 genomes]
rs1475548	0.82[ASN][1000 genomes]
rs1543640	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1543874	0.82[ASN][1000 genomes]
rs1820315	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1831390	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1831391	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1854700	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1952690	0.81[ASN][1000 genomes]
rs2094787	0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs2094788	0.80[CHD][hapmap]
rs3091288	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs3903111	0.91[EUR][1000 genomes]
rs4634752	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4978056	0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs67212517	0.82[ASN][1000 genomes]
rs7019617	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7019739	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs7020867	0.81[ASN][1000 genomes]
rs7021699	0.81[ASN][1000 genomes]
rs7024738	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7031048	0.81[CHD][hapmap];0.83[LWK][hapmap]
rs7033839	0.82[ASW][hapmap]
rs7037389	0.83[JPT][hapmap]
rs7037707	0.90[EUR][1000 genomes]
rs7047351	0.84[ASN][1000 genomes]
rs7848803	0.92[ASN][1000 genomes]
rs7849623	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7857863	0.91[ASN][1000 genomes]
rs7858766	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7866359	0.86[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs7868334	0.94[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[YRI][hapmap]
rs7872575	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9298814	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817218	chr9:20687769-21309177	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
3	nsv892734	chr9:21108817-21323089	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1035128	chr9:21196300-21269669	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv982643	chr9:21242163-21262125	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1330320	KLHL9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21253600-21255200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr9:21253600-21255400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:21253600-21255400	Weak transcription	Fetal Thymus	thymus
4	chr9:21254000-21255200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:21254200-21255200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr9:21254800-21255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:21254800-21256600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr9:21255000-21256600	Enhancers	Primary hematopoietic stem cells	blood

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